Abstract:
:The number of known inherited metabolic disorders resulting in an organic aciduria has increased steadily over the past two decades. Prompt and reliable detection is both clinically and technically demanding but is essential if appropriate treatment is to be undertaken. This is the first study of laboratory performance in the detection of these disorders to be undertaken in the UK. Some conditions were accurately identified by most laboratories: for example for maple syrup urine disease, 12 of 14 laboratories provided an appropriate response and medium chain acyl-CoA dehydrogenase deficiency was correctly identified by 15 of 17 laboratories. However, accuracy of detection was poorer for other conditions: for example, only eight of 17 laboratories detected tyrosinaemia type 1 and nine of 18 laboratories detected 4-hydroxybutyric aciduria. The strongest correlation with good performance was obtained by comparison with the extent of peak identification: r = 0.62, P = 0.002. The need for regular attendance at scientific symposia was also supported by a weaker positive correlation with the average score achieved, P = 0.08. Evidence also suggested that some of the laboratories with a low workload performed less well. No significant difference in performance could be demonstrated between the 17 laboratories who used gas chromatography-mass spectrometry and the six participants who used gas chromatography alone.
journal_name
Ann Clin Biochemjournal_title
Annals of clinical biochemistryauthors
Bonham JR,Downing M,Pollitt RJ,Manning NJ,Carpenter KH,Olpin SE,Allen JC,Worthy Edoi
10.1177/000456329403100203subject
Has Abstractpub_date
1994-03-01 00:00:00pages
129-33eissn
0004-5632issn
1758-1001journal_volume
31 ( Pt 2)pub_type
杂志文章abstract::Thyroglobulin (Tg) is a tumour marker for differentiated thyroid cancer. Interpretation requires a knowledge of the current thyrotropin (TSH) concentration as secretion is TSH-dependent. While a raised serum Tg may be indicative of residual or recurrent thyroid cancer, trauma to the thyroid (e.g. surgical, biopsy or d...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1258/acb.2011.011248
更新日期:2012-07-01 00:00:00
abstract:BACKGROUND:About 10 years ago, a survey showed significant deficiencies in the quality of gastrointestinal investigations performed by UK laboratories. Subsequently, several clinical guidelines have been developed and external quality assessment schemes introduced. This survey was performed to assess whether earlier de...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/000456307780117911
更新日期:2007-03-01 00:00:00
abstract::A rapid and simple method for detecting circulating immune complexes based on turbidity measurements following polyethylene glycol precipitation was studied with regard to its suitability as a routine assay in clinical laboratories. This method was found to have an acceptable degree of precision provided the temperatu...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328101800610
更新日期:1981-11-01 00:00:00
abstract::Serum osteocalcin did not show any response to the onset of osteosarcoma in Paget's disease of bone whereas serum alkaline phosphatase increased rapidly. This suggests that osteocalcin is not useful in the diagnosis and management of Paget's osteosarcoma and does not reflect the same osteoblastic processes in bone as ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329102800216
更新日期:1991-03-01 00:00:00
abstract::Smoking is a major risk factor for periodontal disease, causing bone and tooth loss. Effective management of many oral conditions requires accurate information about smoking. We describe a disposable, 10-min, near-patient saliva test to monitor cigarette smoking. A plastic device contains the dried reagents to measure...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/0004563001899717
更新日期:2000-09-01 00:00:00
abstract::The content of cytoplasmic 17 beta oestradiol and progesterone receptors in human uterine leiomyoma and normal myometrium in the Negroid population was determined. Eighteen women of reproductive age, at various stages of the menstrual cycle, were included in the study. The serum oestrogen and progesterone concentratio...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328702400304
更新日期:1987-05-01 00:00:00
abstract::The fasting hyperinsulinaemia characteristic of obesity is due to pancreatic hypersecretion and is accompanied by a corresponding increase in plasma C-peptide concentrations. The exaggerated plasma insulin and C-peptide responses to oral glucose in obese subjects which is greater for insulin than C-peptide suggests th...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328902600502
更新日期:1989-09-01 00:00:00
abstract::The levels of thyroid hormones in paired venous and capillary serum samples taken from 68 healthy full-term neonates were determined by radioimmunoassay. Compared with capillary values, total thyroxine (T4), thyrotropin (TSH) and thyroxine-binding globulin (TBG) each showed a significant decrease in venous serum. The ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328402100413
更新日期:1984-07-01 00:00:00
abstract:BACKGROUND:It is recommended that children receiving intravenous fluids should have frequent biochemical monitoring, in some situations 4-6 hourly. Small changes in sodium must be detected, requiring very high precision from sodium analyses. Some children are monitored using venous blood analysed by indirect ion-select...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/000456306778904560
更新日期:2006-11-01 00:00:00
abstract:BACKGROUNDS:Diabetic patients with end-stage renal disease who are not on haemodialysis show low concentrations of HbA1c and glycated albumin due to renal anaemia and proteinuria, respectively. In the present study, we examined whether serum albumin-adjusted glycated albumin could accurately reflect glycaemic control i...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563214568162
更新日期:2015-07-01 00:00:00
abstract::Background Proglucagon-derived hormones represent a family of peptides mainly produced in the pancreas and the intestine. While several proglucagon-derived peptides play key roles in metabolic diseases, little is known about glicentin. The aim of the present study was to investigate serum glicentin concentrations in i...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563217700172
更新日期:2018-03-01 00:00:00
abstract::The deproteinised sample (150 microliters) is 'injected' into a continuously flowing stream of deionised water which is pumped, via a capillary tube, to the nebuliser of an atomic absorption spectrophotometer. Analytical readout is obtained, in the form of transient peaks, 6 s after sample injection. Before injection ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328302000202
更新日期:1983-03-01 00:00:00
abstract::It is increasingly easy for the general public to access a wide range of laboratory tests. Tests can be ordered online with little or no input from a health professional. The complementary and alternative medicine (CAM) community promote and sell a wide range of tests, many of which are of dubious clinical significanc...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1177/0004563218824622
更新日期:2019-05-01 00:00:00
abstract::A rapid vacuum-driven procedure, using pre-treated Sep-Pak C18 cartridges, has been developed for the simultaneous extraction of arginine vasopressin (AVP) and atrial natriuretic peptide (ANP) from plasma. Non-specific interference was removed by fractional elution with an aqueous methanol/trifluoroacetic acid (TFA) m...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329202900606
更新日期:1992-11-01 00:00:00
abstract::This paper critically examines the usefulness of serum albumin measurement in the light of current laboratory practice and knowledge of the pathophysiology of albumin metabolism. The main conclusions and recommendations are as follows: (i) Albumin measurement forms a limited, but useful part of the investigation of li...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1177/000456328702400604
更新日期:1987-11-01 00:00:00
abstract::Many attempt are now being made by external agencies to assess the quality of assay performance in hormone laboratories. Some of the problems associated with this are discussed and some remedies are proposed. ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328101800101
更新日期:1981-01-01 00:00:00
abstract:BACKGROUND:It is important to explain target proteins for the understanding of the pathogenesis of vitreoretinal diseases. In a previous study, we identified more than 100 proteins including seven angiogenic-modulated factors in vitreous humours (VHs). Although there have been many reports of expressed protein profiles...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2007.007151
更新日期:2008-05-01 00:00:00
abstract::Gestational diabetes is a common pregnancy disorder which is generally managed with diet, exercise, metformin or insulin treatment and which usually resolves after delivery of the infant. Identifying and treating gestational diabetes improves maternal and fetal outcomes and allows for health promotion to reduce the mo...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1177/0004563216674743
更新日期:2017-01-01 00:00:00
abstract::Salivary theophylline concentrations in neonates were measured by a homogeneous enzyme immunoassay and compared with serum concentrations. Free serum theophylline concentrations were also compared with salivary concentrations and the values obtained were almost identical. Results using the immunoassay agreed well with...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329403100311
更新日期:1994-05-01 00:00:00
abstract::Neuropeptides are present in brain tissue as well as in cerebrospinal fluid. Studies from a variety of disciplines have demonstrated that neuropeptides have neuromodulatory activities. Such activities are apparent in the involvement of neuropeptides in the regulation of adaptive, autonomic, and endocrine functions of ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1177/000456328201900416
更新日期:1982-07-01 00:00:00
abstract:BACKGROUND:Recent NICE Guidelines have emphasized the need to have in place by 2007 the capability of offering screening to all women in the first trimester using a combination of maternal age with the ultrasound marker nuchal translucency thickness (NT) and the maternal serum biochemical markers free beta-hCG and preg...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/0004563053026880
更新日期:2005-01-01 00:00:00
abstract::Despite sonographic detection of foetal goitre, uncertainty persists in the initial diagnosis of thyrotoxicosis and hypothyroidism. The aim of this study was to establish foetal and neonatal iodothyronine and thyrotrophin reference values for the ACS-180SE analyser. From 22 to 36 weeks of gestation, median foetal seru...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456320103800509
更新日期:2001-09-01 00:00:00
abstract::Parenteral nutrition is a well-established technique for feeding patients with intestinal failure and other conditions which render enteral feeding impossible. Biochemical tests are required in the initial assessment of these patients, for monitoring their response to treatment and for the detection and management of ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1177/000456328702400401
更新日期:1987-07-01 00:00:00
abstract::A patient with sepsis and jaundice was admitted for diagnosis and treatment. Associated biochemical changes included increased C-reactive protein, conjugated bilirubin and gamma-glutamyltransferase, the duration of which was protracted. High urine coproporphyrin isomer-1 and immunostaining of liver tissue suggested Du...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2012.011279
更新日期:2012-11-01 00:00:00
abstract::Proteinuria is the cardinal sign of renal disease, therefore accurate identification of clinically significant proteinuria is essential to the diagnosis and management of kidney disease. Spot samples are now widely used, namely protein: creatinine ratio (uPCR) and albumin: creatinine ratio (uACR). In this article we r...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1177/0004563212473283
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND:Current guidelines document persistent rectal bleeding as an alarm symptom in patients presenting to primary care. We studied whether a faecal immunochemical test could assist in their assessment. METHODS:From December 2015, faecal immunochemical tests were routinely available to primary care when assessing...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563220935622
更新日期:2020-07-01 00:00:00
abstract::The last 10 years have witnessed radical changes in the definition and diagnosis of the acute coronary syndrome (ACS), including myocardial infarction, as a result of the introduction of sensitive and specific markers of myocardial damage, the cardiac troponins. One barrier to the universal acceptance of these markers...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1258/000456304322664645
更新日期:2004-01-01 00:00:00
abstract::In the last few years, the use of enzyme labels in immunoassays has been investigated. The aim of this review is to evaluate critically the role of such labels in clinical biochemistry. Special attention has been given to the problems involved in preparing enzyme labels and the ways in which such labels can be used in...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1177/000456327901600162
更新日期:1979-09-01 00:00:00
abstract::Serum retinol-binding protein (RBP), with a biological half-life of less than 12 h, is a useful indicator of liver or kidney dysfunction. An automated immunoturbidimetric assay for the measurement of RBP has been developed using the Cobas-BIO centrifugal analyser and commercially available materials. Serum samples wit...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328802500309
更新日期:1988-05-01 00:00:00
abstract::Haptoglobin is an acute-phase protein with three major phenotypes: Hp 1-1, Hp 2-1 and Hp 2-2. Studies have shown that functional differences between these phenotypes have important consequences in a number of pathological disorders (e.g. cardiovascular disease, autoimmune disorders, infectious disease), making phenoty...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329903600507
更新日期:1999-09-01 00:00:00